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	1.	Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice. [electronic resource] by Girirajan, Santhosh Elsea, Sarah H Producer: 20091102 In: European journal of medical genetics vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Brachydactyly A1: new relatives for old families? [electronic resource] by Girirajan, Santhosh Elsea, Sarah H Producer: 20051027 In: Journal of genetics vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Smith-Magenis syndrome. [electronic resource] by Elsea, Sarah H Girirajan, Santhosh Producer: 20080529 In: European journal of human genetics : EJHG vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Abnormal maternal behavior, altered sociability, and impaired serotonin metabolism in Rai1-transgenic mice. [electronic resource] by Girirajan, Santhosh Elsea, Sarah H Producer: 20090526 In: Mammalian genome : official journal of the International Mammalian Genome Society vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	The mousetrap: what we can learn when the mouse model does not mimic the human disease. [electronic resource] by Elsea, Sarah H Lucas, Rebecca E Producer: 20020416 In: ILAR journal vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways. [electronic resource] by Elsea, Sarah H Williams, Stephen R Producer: 20110725 In: Expert reviews in molecular medicine vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Intragenic MBD5 familial deletion variant does not negatively impact MBD5 mRNA expression. [electronic resource] by Mullegama, Sureni V Elsea, Sarah H Producer: 20141126 In: Molecular cytogenetics vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND). [electronic resource] by Mullegama, Sureni V Elsea, Sarah H Publication details: European journal of human genetics : EJHG 08 2016 In: European journal of human genetics : EJHG vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Behavior and sleep disturbance in Smith-Magenis syndrome. [electronic resource] by Shayota, Brian J Elsea, Sarah H Producer: 20200306 In: Current opinion in psychiatry vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Untargeted Metabolomics for Autism Spectrum Disorders: Current Status and Future Directions. [electronic resource] by Glinton, Kevin E Elsea, Sarah H Publication details: Frontiers in psychiatry 2019 In: Frontiers in psychiatry vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND). [electronic resource] by Mullegama, Sureni V Elsea, Sarah H Producer: 20170726 In: European journal of human genetics : EJHG vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Prevalence of three hereditary hemochromatosis mutant alleles in the Michigan Caucasian population. [electronic resource] by Barry, Elizabeth Derhammer, Teresa Elsea, Sarah H Producer: 20060124 In: Community genetics vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Simultaneous determination of plasma total homocysteine and methionine by liquid chromatography-tandem mass spectrometry. [electronic resource] by Jiang, Yi Mistretta, Brandon Elsea, Sarah Sun, Qin Producer: 20170208 In: Clinica chimica acta; international journal of clinical chemistry vol. 464 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Development of a rapid UPLC-MS/MS determination of urine sulfocysteine for diagnosis of sulfocysteinuria and molybdenum co-factor deficiencies. [electronic resource] by Jiang, Yi Mistretta, Brandon Elsea, Sarah H Sun, Qin Producer: 20181001 In: Bioanalysis vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Overview of Smith-Magenis syndrome. [electronic resource] by Smith, Ann C M Magenis, R Ellen Elsea, Sarah H Producer: 20060125 In: Journal of the Association of Genetic Technologists vol. 31 Availability: No items available. Save to lists Add to cart (remove)
	16.	LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency. [electronic resource] by Stowe, Robert C Sun, Qin Elsea, Sarah H Scaglia, Fernando Producer: 20190520 In: American journal of medical genetics. Part A vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Caring for the caregivers: an investigation of factors related to well-being among parents caring for a child with Smith-Magenis syndrome. [electronic resource] by Foster, Rebecca H Kozachek, Stephanie Stern, Marilyn Elsea, Sarah H Producer: 20100603 In: Journal of genetic counseling vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally? [electronic resource] by Vlangos, Christopher N Yim, Dwight K C Elsea, Sarah H Producer: 20040204 In: Molecular genetics and metabolism vol. 79 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Retinoic acid induced-1 (Rai1) regulates craniofacial and brain development in Xenopus. [electronic resource] by Tahir, Raiha Kennedy, Allyson Elsea, Sarah H Dickinson, Amanda J Producer: 20150622 In: Mechanisms of development vol. 133 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature. [electronic resource] by Truong, Hoa T Dudding, Tracy Blanchard, Christopher L Elsea, Sarah H Producer: 20101116 In: BMC medical genetics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 103 results.